disease:Defects in CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures.,online information:Neural Ceroid Lipofuscinoses mutation db,PTM:Glycosylated.,similarity:Belongs to the CLN5 family.,tissue specificity:Ubiquitous.,
[Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome .; [Ceroid-lipofuscinosis neuronal protein 5]: Membrane ; Single-pass type II membrane protein . An amphipathic anchor region facilitates its association with the membrane. .
Ubiquitous.
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